Canonical Allele Identifier: CA1312571

Gene: CRB1

Linked Data

• dbSNP Id: rs758824025
• ExAC: 1:197446959 G / C
• gnomAD v2: 1-197446959-G-C
• gnomAD v3: 1-197477829-G-C
• gnomAD v4: 1-197477829-G-C
• MyVariant Identifiers: chr1:g.197446959G>C (hg19) ; chr1:g.197477829G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477829G>C , CM000663.2:g.197477829G>C	GRCh38
NC_000001.10:g.197446959G>C , CM000663.1:g.197446959G>C	GRCh37
NC_000001.9:g.195713582G>C	NCBI36
NG_008483.1:g.214552G>C
NG_008483.2:g.281368G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4171G>C MANE Select	ENSP00000356370.3:p.Val1391Leu
ENST00000367399.6:c.3835G>C	ENSP00000356369.2:p.Val1279Leu
ENST00000367400.7:c.4171G>C	ENSP00000356370.3:p.Val1391Leu
ENST00000448952.1:c.405G>C	ENSP00000395407.1:n.405G>C
ENST00000484075.5:c.*282G>C	ENSP00000433932.1:n.*282G>C
ENST00000535699.5:c.4099G>C	ENSP00000438786.1:p.Val1367Leu
ENST00000538660.5:c.2563G>C	ENSP00000438091.1:p.Val855Leu
NM_001193640.1:c.3835G>C	NP_001180569.1:p.Val1279Leu
NM_001257965.1:c.4099G>C	NP_001244894.1:p.Val1367Leu
NM_001257966.1:c.2563G>C	NP_001244895.1:p.Val855Leu
NM_201253.2:c.4171G>C	NP_957705.1:p.Val1391Leu
NR_047563.1:n.4172G>C
NR_047564.1:n.4622G>C
XM_011509366.1:c.*276G>C	XP_011507668.1:n.*276G>C
XM_011509367.1:c.*150G>C	XP_011507669.1:n.*150G>C
XM_011509368.1:c.3589G>C	XP_011507670.1:p.Val1197Leu
XM_011509369.1:c.2614G>C	XP_011507671.1:p.Val872Leu
XM_011509369.2:c.2614G>C	XP_011507671.1:p.Val872Leu
XM_017000851.1:c.3328G>C	XP_016856340.1:p.Val1110Leu
XM_017000852.1:c.4306G>C	XP_016856341.1:p.Val1436Leu
NM_201253.3:c.4171G>C MANE Select	NP_957705.1:p.Val1391Leu
NM_001193640.2:c.3835G>C	NP_001180569.1:p.Val1279Leu
NM_001257965.2:c.4099G>C	NP_001244894.1:p.Val1367Leu
NR_047563.2:n.4124G>C
NR_047564.2:n.4574G>C
NM_001257966.2:c.2563G>C	NP_001244895.1:p.Val855Leu